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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 6295

FusionGeneSummary for CD99L2_MYH7

check button Fusion gene summary
Fusion gene informationFusion gene name: CD99L2_MYH7
Fusion gene ID: 6295
HgeneTgene
Gene symbol

CD99L2

MYH7

Gene ID

83692

4625

Gene nameCD99 molecule like 2myosin heavy chain 7
SynonymsCD99B|MIC2L1CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM
Cytomap

Xq28

14q11.2

Type of geneprotein-codingprotein-coding
DescriptionCD99 antigen-like protein 2MIC2 like 1MIC2-like protein 1myosin-7cardiac muscle myosin heavy chain 7 betamyHC-betamyhc-slowmyopathy, distal 1myosin 7myosin heavy chain beta-subunitmyosin heavy chain slow isoformmyosin heavy chain, cardiac muscle beta isoformmyosin, heavy chain 7, cardiac muscle, betam
Modification date2018051920180519
UniProtAcc

Q8TCZ2

P12883

Ensembl transtripts involved in fusion geneENST00000346693, ENST00000370377, 
ENST00000355149, ENST00000437787, 
ENST00000466436, ENST00000320893, 
ENST00000355349, 
Fusion gene scores* DoF score8 X 7 X 2=1123 X 3 X 2=18
# samples 83
** MAII scorelog2(8/112*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CD99L2 [Title/Abstract] AND MYH7 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneMYH7

GO:0002026

regulation of the force of heart contraction

15621050

TgeneMYH7

GO:0002027

regulation of heart rate

15621050

TgeneMYH7

GO:0006936

muscle contraction

15621050

TgeneMYH7

GO:0006941

striated muscle contraction

15621050

TgeneMYH7

GO:0046034

ATP metabolic process

15621050


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BF826346CD99L2chrX

149935907

+MYH7chr14

23894585

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000346693ENST00000355349CD99L2chrX

149935907

+MYH7chr14

23894585

-
intron-3CDSENST00000370377ENST00000355349CD99L2chrX

149935907

+MYH7chr14

23894585

-
intron-3CDSENST00000355149ENST00000355349CD99L2chrX

149935907

+MYH7chr14

23894585

-
intron-3CDSENST00000437787ENST00000355349CD99L2chrX

149935907

+MYH7chr14

23894585

-
intron-3CDSENST00000466436ENST00000355349CD99L2chrX

149935907

+MYH7chr14

23894585

-
intron-3CDSENST00000320893ENST00000355349CD99L2chrX

149935907

+MYH7chr14

23894585

-

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FusionProtFeatures for CD99L2_MYH7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CD99L2

Q8TCZ2

MYH7

P12883


check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for CD99L2_MYH7


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for CD99L2_MYH7


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for CD99L2_MYH7


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CD99L2_MYH7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMYH7C3495498Cardiomyopathy, Familial Hypertrophic, 1 (disorder)58CTD_human;UNIPROT
TgeneMYH7C1834481CARDIOMYOPATHY, DILATED, 1S6CTD_human;UNIPROT
TgeneMYH7C1842160MYOPATHY, MYOSIN STORAGE (disorder)4CTD_human;UNIPROT
TgeneMYH7C0221054Welander Distal Myopathy2ORPHANET;UNIPROT
TgeneMYH7C0007193Cardiomyopathy, Dilated1CTD_human;HPO
TgeneMYH7C0027051Myocardial Infarction1CTD_human
TgeneMYH7C0242231Coronary Stenosis1CTD_human
TgeneMYH7C0949658Cardiomyopathy, Hypertrophic, Familial1CTD_human
TgeneMYH7C1850709Myopathy, Hyaline Body, Autosomal Recessive1UNIPROT